Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000451.3(SHOX):c.-646_-645insTGT | 6473 | SHOX | Pathogenic | 199946685 | RCV000190325; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | Y | 535124 | 535125 | NM_000451.3:c.-646_-645insTGT | | NC_000023.10:g.585124_585125insTGT | - | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.-512C>A | 6473 | SHOX | Pathogenic | 113313554 | RCV000190324; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | Y | 535258 | 535258 | NM_000451.3:c.-512C>A | | NC_000023.10:g.585258C>A | - | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.-507G>C | 6473 | SHOX | Pathogenic | 111549748 | RCV000190323; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | Y | 535263 | 535263 | NM_000451.3:c.-507G>C | | NC_000023.10:g.585263G>C | - | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.63C>T (p.Gly21=) | 6473 | SHOX | Benign | 142306835 | RCV000030456; RCV000078908; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795; MedGen:CN169374 | Y | 541695 | 541695 | NM_000451.3:c.63C>T | NP_000442.1:p.Gly21= | NC_000023.10:g.591695C>T | - | CN169374 not specified; C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.279G>T (p.Gly93=) | 6473 | SHOX | Likely benign | 193922465 | RCV000030452; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | Y | 545354 | 545354 | NM_000451.3:c.279G>T | NP_000442.1:p.Gly93= | X:g.595354G>T | - | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.347A>G (p.Lys116Arg) | 6473 | SHOX | Likely pathogenic | 193922466 | RCV000030453; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | Y | 545422 | 545422 | NM_000451.3:c.347A>G | NP_000442.1:p.Lys116Arg | NC_000023.10:g.595422A>G | - | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.400C>A (p.Arg134=) | 6473 | SHOX | Likely benign | 193922467 | RCV000030454; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | Y | 545475 | 545475 | NM_000451.3:c.400C>A | NP_000442.1:p.Arg134= | NC_000023.10:g.595475C>A | - | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.583C>T (p.Arg195Ter) | 6473 | SHOX | Pathogenic | 137852552 | RCV000010547; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | Y | 551772 | 551772 | NM_000451.3:c.583C>T | NP_000442.1:p.Arg195Ter | NC_000023.10:g.601772C>T | OMIM Allelic Variant:312865.0001 | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.-646_-645insTGT | 6473 | SHOX | Pathogenic | 199946685 | RCV000190325; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | X | 585124 | 585125 | NM_000451.3:c.-646_-645insTGT | | NC_000023.10:g.585124_585125insTGT | - | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.-512C>A | 6473 | SHOX | Pathogenic | 113313554 | RCV000190324; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | X | 585258 | 585258 | NM_000451.3:c.-512C>A | | NC_000023.10:g.585258C>A | - | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.-507G>C | 6473 | SHOX | Pathogenic | 111549748 | RCV000190323; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | X | 585263 | 585263 | NM_000451.3:c.-507G>C | | NC_000023.10:g.585263G>C | - | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.63C>T (p.Gly21=) | 6473 | SHOX | Benign | 142306835 | RCV000030456; RCV000078908; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795; MedGen:CN169374 | X | 591695 | 591695 | NM_000451.3:c.63C>T | NP_000442.1:p.Gly21= | NC_000023.10:g.591695C>T | - | CN169374 not specified; C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.279G>T (p.Gly93=) | 6473 | SHOX | Likely benign | 193922465 | RCV000030452; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | X | 595354 | 595354 | NM_000451.3:c.279G>T | NP_000442.1:p.Gly93= | X:g.595354G>T | - | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.347A>G (p.Lys116Arg) | 6473 | SHOX | Likely pathogenic | 193922466 | RCV000030453; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | X | 595422 | 595422 | NM_000451.3:c.347A>G | NP_000442.1:p.Lys116Arg | NC_000023.10:g.595422A>G | - | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.400C>A (p.Arg134=) | 6473 | SHOX | Likely benign | 193922467 | RCV000030454; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | X | 595475 | 595475 | NM_000451.3:c.400C>A | NP_000442.1:p.Arg134= | NC_000023.10:g.595475C>A | - | C1845118 300582 Short stature, idiopathic, X-linked | | |
NM_000451.3(SHOX):c.583C>T (p.Arg195Ter) | 6473 | SHOX | Pathogenic | 137852552 | RCV000010547; | N | MedGen:C1845118,OMIM:300582,ORPHA:314795 | X | 601772 | 601772 | NM_000451.3:c.583C>T | NP_000442.1:p.Arg195Ter | NC_000023.10:g.601772C>T | OMIM Allelic Variant:312865.0001 | C1845118 300582 Short stature, idiopathic, X-linked | | |